A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062740



Internal ID18805271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46358076hg38UCSC Ensembl
Innerchr17:44165803..44435442hg19UCSC Ensembl
Innerchr17:41521621..41791184hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38269640
hg19269640
hg18269564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3185n100
Supporting Variantsnssv3548371, nssv3548369, nssv3548370
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062740
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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